FATTY ACID OXIDATION DISORDERS CARNITINE UPTAKE
... FATTY ACID OXIDATION DISORDERS CARNITINE UPTAKE DISORDERS(CUD) Carnitine, a natural substance in food is used by cells to process fats to produce energy. Infants with primary Carnitine deficiencies have proteins called carnitine transporters that do not work so the body can not use fat for energy pa ...
... FATTY ACID OXIDATION DISORDERS CARNITINE UPTAKE DISORDERS(CUD) Carnitine, a natural substance in food is used by cells to process fats to produce energy. Infants with primary Carnitine deficiencies have proteins called carnitine transporters that do not work so the body can not use fat for energy pa ...
Power Point Slides
... 1. Couples who already have a child with some serious defect such as Down syndrome, spina bifida, congenital heart disease, limb malformation, or mental retardation 2. Couples with a family history of a genetic disease or mental retardation 3. Couples who are blood relatives (first or second cousins ...
... 1. Couples who already have a child with some serious defect such as Down syndrome, spina bifida, congenital heart disease, limb malformation, or mental retardation 2. Couples with a family history of a genetic disease or mental retardation 3. Couples who are blood relatives (first or second cousins ...
05. HEREDITARY METABOLIC DISEASES
... neurologic changes, including seizures and mental retardation. These by-products also cause body fluids, such as urine and sweat, to smell like maple syrup ...
... neurologic changes, including seizures and mental retardation. These by-products also cause body fluids, such as urine and sweat, to smell like maple syrup ...
Ipoglicemia neonatale persistente: considerazioni su un
... New TRAB assays have specificity and sensitivity > 90% It could have a prognostic value, either at the onset of GD or during treatment Cardia et al, Thyroid 2004, 14: 295 Cappelli et al, Endocrin J 2007, 54:713 ...
... New TRAB assays have specificity and sensitivity > 90% It could have a prognostic value, either at the onset of GD or during treatment Cardia et al, Thyroid 2004, 14: 295 Cappelli et al, Endocrin J 2007, 54:713 ...
The Big 4: RP - Mississippi State University
... Blindness (www.blindness.org) is leading research efforts to find a cure. Other major research is being done at the National Center for the Study and treatment of Usher Syndrome at Boy’s Town ...
... Blindness (www.blindness.org) is leading research efforts to find a cure. Other major research is being done at the National Center for the Study and treatment of Usher Syndrome at Boy’s Town ...
Sickle Cell Disease - Perinatal Services BC
... occur. Splenic sequestration and acute chest crises can be life threatening. There is also an increased risk for stroke if blood vessels in the brain become blocked. Increased hemolysis results in anemia and jaundice. Children with sickle cell disease are more susceptible to infection and sepsis, an ...
... occur. Splenic sequestration and acute chest crises can be life threatening. There is also an increased risk for stroke if blood vessels in the brain become blocked. Increased hemolysis results in anemia and jaundice. Children with sickle cell disease are more susceptible to infection and sepsis, an ...
10.20.09 Caulfield Polycythemia vera
... Occurs in all populations and all ages, including early adulthood and occasionally in children and adolescents At Mayo, the incidence during the period from 1935 through 1989 was estimated to be 1.9/100,000 per year Incidence is slightly higher in men than women (2.8 versus 1.3 cases/100,000 per yea ...
... Occurs in all populations and all ages, including early adulthood and occasionally in children and adolescents At Mayo, the incidence during the period from 1935 through 1989 was estimated to be 1.9/100,000 per year Incidence is slightly higher in men than women (2.8 versus 1.3 cases/100,000 per yea ...
Problem 05- Enlarged Spleen
... Portal hypertension is an increase in the blood pressure within a system of veins called the portal venous system. Normally, the veins come from the stomach, intestine, spleen, and pancreas, merge into the portal vein, which then branches into smaller vessels and travels through the liver. If the ve ...
... Portal hypertension is an increase in the blood pressure within a system of veins called the portal venous system. Normally, the veins come from the stomach, intestine, spleen, and pancreas, merge into the portal vein, which then branches into smaller vessels and travels through the liver. If the ve ...
INTRACLASS CORRELATION (r) BETWEEN SIBS WITH SICKLE
... Sickle Cell Disease: General Points A single point mutation in HBB causes sickle hemoglobin (HbS) Sickle cell trait is innocuous HbS homozygotes and some compound heterozygotes, like HbSC disease and HbS-β thalassemia have a severe disease Pathophysiology is complex and suggests multiple Rx targets ...
... Sickle Cell Disease: General Points A single point mutation in HBB causes sickle hemoglobin (HbS) Sickle cell trait is innocuous HbS homozygotes and some compound heterozygotes, like HbSC disease and HbS-β thalassemia have a severe disease Pathophysiology is complex and suggests multiple Rx targets ...
Argininosuccinic Aciduria Argininosuccinic Acid Lyase Deficiency
... It is one of the urea cycle defects due to deficiency of one of the enzymes that is involved in the urea cycle. As a result of this deficiency of this enzyme, hyperammonemia occur which leads to irreversible brain damage. What causes the disease? Mutations in the ASL genes are a potential cause of t ...
... It is one of the urea cycle defects due to deficiency of one of the enzymes that is involved in the urea cycle. As a result of this deficiency of this enzyme, hyperammonemia occur which leads to irreversible brain damage. What causes the disease? Mutations in the ASL genes are a potential cause of t ...
Infections
... Primary oral herpes: A 5-year-old boy has an ulcerative rash with vesicles around the mouth. Vesicles and ulcers are also present within the mouth. Results of a Tzanck smear show multinucleated giant cells (syncytia) and Cowdry type A inclusion bodies. The lesions resolve after 18 days. Recurrent o ...
... Primary oral herpes: A 5-year-old boy has an ulcerative rash with vesicles around the mouth. Vesicles and ulcers are also present within the mouth. Results of a Tzanck smear show multinucleated giant cells (syncytia) and Cowdry type A inclusion bodies. The lesions resolve after 18 days. Recurrent o ...
CLINICAL MANIFESTATIONS Visceral disease
... Hepatosplenomegaly may be asymptomatic or may be associated with early satiety, abdominal complaints (distension, discomfort, pain), and/or anemia and thrombocytopenia . ...
... Hepatosplenomegaly may be asymptomatic or may be associated with early satiety, abdominal complaints (distension, discomfort, pain), and/or anemia and thrombocytopenia . ...
Fertilization
... Osteosarcoma (cont.) • Manifestations – Experiences pain and swelling at the site – Pathologic fractures can occur ...
... Osteosarcoma (cont.) • Manifestations – Experiences pain and swelling at the site – Pathologic fractures can occur ...
Greatly increased density of the skeleton
... and fracture easily, like a piece of chalk. It occurs in two major clinical forms: 1) an autosomal recessive malignant infantile form, which is the most severe form of this disorder and death, usually occurs in the first decade of life, and 2) a less severe autosomal dominant variant. The main featu ...
... and fracture easily, like a piece of chalk. It occurs in two major clinical forms: 1) an autosomal recessive malignant infantile form, which is the most severe form of this disorder and death, usually occurs in the first decade of life, and 2) a less severe autosomal dominant variant. The main featu ...
Oncologic emergency
... When hyperviscosity results from elevated white blood cells, it is referred to as hyperleukocytosis or if symptomatic leukostasis. ...
... When hyperviscosity results from elevated white blood cells, it is referred to as hyperleukocytosis or if symptomatic leukostasis. ...
Pediatric Board Review Course Pediatric Hematology/Oncology
... Sickle cell and Hydoxyurea FDA approved for adults Studies in children demonstrated efficacy and safety. Increases hemoglobin F level Increases hemoglobin Decreases WBC – ancillary effect Hydroxyurea is recommended by the hematologist for patients who have recurrent vaso-occlusive crises, Acute che ...
... Sickle cell and Hydoxyurea FDA approved for adults Studies in children demonstrated efficacy and safety. Increases hemoglobin F level Increases hemoglobin Decreases WBC – ancillary effect Hydroxyurea is recommended by the hematologist for patients who have recurrent vaso-occlusive crises, Acute che ...
Sickle Cell Disease
... PT, PTT • The prothrombin time (PT) test measures how long it takes for a clot to form in a sample of blood. • Prothrombin is one of several clotting factors that are produced by the liver. • The PT test evaluates the integrated function of these factors and the body’s ability to produce a clot in ...
... PT, PTT • The prothrombin time (PT) test measures how long it takes for a clot to form in a sample of blood. • Prothrombin is one of several clotting factors that are produced by the liver. • The PT test evaluates the integrated function of these factors and the body’s ability to produce a clot in ...
hirschprungs` like syndrome associated with acute intermitant
... Hadary A.*, Dinai Y.**, Shoshani G.***, Cozacov C.* The department of general surgery* and internal medicine**, Rebecca Sieff Hospital, Safed and the department of pediatric surgery***, Rambam Hospital, Haifa, Israel A 20 years old soldier presented with acute large bowel obstruction. Anamnesis reve ...
... Hadary A.*, Dinai Y.**, Shoshani G.***, Cozacov C.* The department of general surgery* and internal medicine**, Rebecca Sieff Hospital, Safed and the department of pediatric surgery***, Rambam Hospital, Haifa, Israel A 20 years old soldier presented with acute large bowel obstruction. Anamnesis reve ...
Nursing Care Management
... 2. A citrus fruit or juice taken with the medication to help in absorption. 3. An adequate dosage of oral iron turns the stool into green color. Absences of greenish black stool may be clue to poor administration of iron, either in schedule or in dosage. 4. If parenteral iron preparation are prescri ...
... 2. A citrus fruit or juice taken with the medication to help in absorption. 3. An adequate dosage of oral iron turns the stool into green color. Absences of greenish black stool may be clue to poor administration of iron, either in schedule or in dosage. 4. If parenteral iron preparation are prescri ...
What is Leukemia? How does Leukemia affect The symptoms of the
... healing of small cuts or sores, and anemia. ...
... healing of small cuts or sores, and anemia. ...
Pediatric Chemotherapy - Mid
... • The student will describe how chemotherapy works on cells normal and cancerous cells • The student will describe the common side effects of chemotherapy • The student will assist in developing a nursing care plan appropriate for the pediatric patient receiving chemotherapy ...
... • The student will describe how chemotherapy works on cells normal and cancerous cells • The student will describe the common side effects of chemotherapy • The student will assist in developing a nursing care plan appropriate for the pediatric patient receiving chemotherapy ...
Acute lymphoblastic leukemia
Acute lymphoblastic leukemia, also known as acute lymphocytic leukemia or acute lymphoid leukemia (ALL), is an acute form of leukemia, or cancer of the white blood cells, characterized by the overproduction and accumulation of cancerous, immature white blood cells, known as lymphoblasts. In persons with ALL, lymphoblasts are overproduced in the bone marrow and continuously multiply, causing damage and death by inhibiting the production of normal cells (such as red and white blood cells and platelets) in the bone marrow and by spreading (infiltrating) to other organs. ALL is most common in childhood, with a peak incidence at 2–5 years of age and another peak in old age.The symptoms of ALL are indicative of a reduced production of functional blood cells, because leukemia wastes the resources of the bone marrow that are normally used to produce new, functioning blood cells. These symptoms can include fever, increased risk of infection (especially bacterial infections like pneumonia, due to neutropenia; symptoms of such an infection include shortness of breath, chest pain, cough, vomiting, changes in bowel or bladder habits), increased tendency to bleed (due to thrombocytopenia), and signs indicative of anemia, including pallor, tachycardia (high heart rate), fatigue, and headache.About 6,000 cases are reported in the United States every year. Internationally, ALL is more common in Caucasians than in Africa; it is more common in Hispanics and in Latin America. Cure is a realistic goal and is achieved in more than 80% of affected children, although only 20-40% of adults are cured. ""Acute"" refers to the relatively short time course of the disease, distinguishing it from chronic lymphocytic leukemia, which has a potential time course of many years.ALL was one of the first cancers for which an effective chemotherapeutic treatment was developed. Antifolates like aminopterin and methotrexate were developed in the late 1940s by Sidney Farber and Yellapragada Subbarow. At that time, a doctor did not need a patient's or parent's consent to try an experimental treatment as the Nuremberg code had not yet been signed. Farber initially tried folic acid supplementation as a treatment for ALL. This had disastrous consequences and he likely accelerated the children's deaths.